A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv778



Internal ID15544505
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:138374785..138409625hg38UCSC Ensembl
Outerchr8:139387028..139421868hg19UCSC Ensembl
Outerchr8:139456210..139491050hg18UCSC Ensembl
Outerchr8:139456210..139491050hg17UCSC Ensembl
Cytoband8q24.23
Allele length
AssemblyAllele length
hg386153
hg196153
hg186153
hg176153
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6418
Supporting Variants
SamplesNA19240
Known GenesFAM135B
MethodSequencing
AnalysisEnd-sequence pairs were mapped to the human genome assembly (hg17) using a previously described algorithm (Tuzun et al 2005)
PlatformCapillary
Comments
ReferenceKidd_et_al_2008
Pubmed ID18451855
Accession Number(s)nssv778
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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